New Strategy for Prenatal Diagnosis of X-Linked Disorders
NEJM 346:1502, Costa,J.,et al, 2002
Infantile Epileptic Spasms Syndrome (West Syndrome)
Stat Pearls PMID:30725936, Smith,M.S.,et al, 2025
A Young Woman With Hypertonia, Severe Scoliosis, and Encephalopathy
JAMA Neurol 81:83-84, Hua,L.,et al, 2024
A 22-Year-Old Woman with Episodic Weakness and Jaundice
Neurol 103:e210018, Rathinasbapathi,M.,et al, 2024
A Young Adult Man with Cognitive Changes, Gait Difficulty, and Renal Insufficiency
Neurol 100:206-212, Stamm,B.,et al, 2023
Neonatal Seizures
NEJM 388:1692-1700, Ropper.A.H., 2023
Myotonic Dystrophy: Etiology, Clinical Features, and Diagnosis
UptoDate 2022 Jan, Darras, B.T., 2022
Fragile X-Associated Tremor or Ataxia Syndrome in a Patient with Difficulty Walking, Falls, a Tremor, and Erectile Dysfunction
Lancet 400:1144, Sabino de Oliveira, D.,et al, 2022
Spinal Muscular Atrophy
UpToDate, Oct, Bodamer,O.A., 2022
Congenital Myasthenic Syndromes in Adult Neurology Clinic
Neurol 91:e1770-e1777, Kao, J.C.,et al, 2018
Congenital Asymmetric Crying Facies Syndrome, A Case Report
Medicine 97:31(e11403), Liang,X. & He,B., 2018
A Child with Delayed Motor Milestones and Ptosis
Neurol 88:e158-e163, Ghosh, P.S., 2017
Action Tremor, Impaired Balance, and Executive Dysfunction in Midlife
JAMA Neurol 74:603-604, Birch, R.C. & Trollor, J.N., 2017
Clinicopathologic Conference, Frontotemporal Lobar Degeneration with Tau-positive Inclusions (Picks Disease Subtype) Due to a Gly389Arg MAPT Mutation, Resulting in the Behavioral Variant of Frontotemporal Dementia with Parkinsonism
NEJM 372:1151-1162, Miller, B.L.,et al, 2015
Characyeristic features and progression of abnormalities on MRI for CARASIL
Neurol 85:459-463, Sekine, Y., etal, 2015
Actionable Diagnosis of Neuroleptospirosis by Next-Generation Sequencing
NEJM 370:Doi:10.1056/NEJMoal1401268, Wilson, M.R.,et al, 2014
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
The Polymerase Chain Reaction:Application to Nervous System Disease
Ann Neurol 34:513-523, Darnell,R.B., 1993